Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype

American Journal of Medical Genetics

Volumn 127 A, Issue 2, 2004, Pages 167-171

  Chu, Cathy ^a   Schwartz, Stuart ^b   McPherson, Elizabeth ^c  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

^c MARSHFIELD CLINIC   (United States)

Author keywords

Genomic imprinting; Malformation syndrome; Paternal uniparental disomy; Skeletal anomalies; UPD14

Indexed keywords

ABDOMINAL WALL DEFECT; ARTICLE; BONE BOWING; CASE REPORT; CHROMOSOME 14; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DISEASE COURSE; FACE MALFORMATION; FATHER; GENOME IMPRINTING; HUMAN; HYDRAMNIOS; KARYOTYPE; KARYOTYPE 46,XY; LIMB DEFECT; MALE; MEDICAL INFORMATION; MEDICAL LITERATURE; MENTAL DEFICIENCY; MICROTIA; MOTHER; NEWBORN; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PHILTRUM; PRIORITY JOURNAL; RESPIRATORY FAILURE; REVIEW; RIB; SHORT STATURE; SKELETON MALFORMATION; SURVIVAL; SYNDROME; THORAX RADIOGRAPHY; THORAX WALL DEFECT; UNIPARENTAL DISOMY;

EID: 2442509817     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20618     Document Type: Article

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